Phenotypes for disease #00714 (RSTS1 (Rubinstein-Taybi syndrome, type 1), OMIM:180849)

30 entries on 1 page. Showing entries 1 - 30.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000045226 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00058635
0000045227 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00058636
0000045228 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00058637
0000045229 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00058638
0000045230 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00058639
0000045286 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058695
0000045287 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058696
0000045288 - - - Unknown - - - - - Martine van Belzen 00058697
0000045289 - - - Unknown - - - - - Martine van Belzen 00058698
0000045290 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058699
0000045291 - - - Unknown - - - - - Martine van Belzen 00058700
0000045292 - - - Unknown - - - - - Martine van Belzen 00058701
0000045293 - - - Unknown - - - - - Martine van Belzen 00058702
0000045294 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058703
0000045295 - - - Unknown - - - - - Martine van Belzen 00058704
0000045342 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058751
0000045343 - - - Unknown - - - - - Martine van Belzen 00058752
0000045344 - - - Unknown - - - - - Martine van Belzen 00058753
0000045345 - - - Unknown - - - - - Martine van Belzen 00058754
0000045358 - - - Isolated (sporadic) - - - - - Martine van Belzen 00058767
0000060397 Rubinstein-Taybi syndrome (OMIM:180849) - - Familial, autosomal dominant - - - - - Daniel Trujillano 00080828
0000087207 mild (IQ:50-80) mental retardation - - Isolated (sporadic) - - - - - Gwenael Le Guyader 00110780
0000087209 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00110821
0000087210 - - - Isolated (sporadic) - - - - - Martine van Belzen 00110861
0000087211 - - - Isolated (sporadic) - - - - - Martine van Belzen 00110888
0000232041 - - - Unknown - - - - - Sha Hong 00306193
0000319106 Global developmental delay, Autistic behavior, Unilateral renal agenesis, Esophageal atresia, Sleep disturbance, Impaired social interactions, Constipation, Hyperactivity, Delayed speech and language development, high forehead, backward rotated ears, corners of the mouth turned downwards - - Unknown 02y - - - - Andreas Laner 00428194
0000326327 Premature birth, Small for gestational age, Bilateral sensorineural hearing impairment, Microcephaly, Neurodevelopmental delay, Intellectual disability, Delayed speech and language development, Generalized-onset seizure - - Isolated (sporadic) 07y - - - - Andreas Laner 00436143
0000337546 Abnormality of prenatal development or birth, Short fetal femur length, Short fetal humerus length, Polyhydramnios, Single umbilical artery, Malposition of the stomach, Dextrocardia - - Unknown 23+3 - - - - Andreas Laner 00448355
0000351462 Global developmental delay, Atypical behavior, Abnormality of the face, Clinodactyly, Sensorineural hearing impairment, Intellectual disability, Bicuspid aortic valve, Cryptorchidism - - Isolated (sporadic) 12y - - - - Andreas Laner 00466078
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